-
1
-
-
59449091811
-
Immunodeficiency due to defects of purine metabolism
-
Ochs H, Smith C, Puck J, editors. Oxford: Oxford University Press
-
Hirschhorn R, Candotti F. Immunodeficiency due to defects of purine metabolism. In: Ochs H, Smith C, Puck J, editors. Primary immunodeficiency diseases. Oxford: Oxford University Press; 2006. pp. 169-196.
-
(2006)
Primary Immunodeficiency Diseases
, pp. 169-196
-
-
Hirschhorn, R.1
Candotti, F.2
-
2
-
-
0037189401
-
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
-
Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002; 296:2410-2413.
-
(2002)
Science
, vol.296
, pp. 2410-2413
-
-
Aiuti, A.1
Slavin, S.2
Aker, M.3
-
3
-
-
34247153039
-
Management options for adenosine deaminase deficiency; Proceedings of the EBMT satellite workshop
-
(Hamburg, March 2006)
-
Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol 2007; 123:139-147.
-
(2007)
Clin Immunol
, vol.123
, pp. 139-147
-
-
Booth, C.1
Hershfield, M.2
Notarangelo, L.3
-
4
-
-
12344331854
-
Combined immune deficiencies due to purine enzyme defects
-
5th ed. Philadelphia: Saunders
-
Hershfield MS. Combined immune deficiencies due to purine enzyme defects. Immunologic Disorders in Infants and Children. 5th ed. Philadelphia: Saunders; 2004:480-504.
-
(2004)
Immunologic Disorders in Infants and Children
, pp. 480-504
-
-
Hershfield, M.S.1
-
5
-
-
59449108477
-
Gene therapy fulfilling its promise
-
Kohn DB, Candotti F. Gene therapy fulfilling its promise. N Engl J Med 2009; 360:518-521.
-
(2009)
N Engl J Med
, vol.360
, pp. 518-521
-
-
Kohn, D.B.1
Candotti, F.2
-
6
-
-
43249112042
-
Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients
-
Cassani B, Mirolo M, Cattaneo F, et al. Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. Blood 2008; 111:4209-4219.
-
(2008)
Blood
, vol.111
, pp. 4209-4219
-
-
Cassani, B.1
Mirolo, M.2
Cattaneo, F.3
-
7
-
-
0026758198
-
Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency
-
Notarangelo LD, Stoppoloni G, Toraldo R, et al. Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency. Eur J Pediatr 1992; 151:811-814.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 811-814
-
-
Notarangelo, L.D.1
Stoppoloni, G.2
Toraldo, R.3
-
9
-
-
69849094921
-
Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency
-
Mazzolari E, de Martiis D, Forino C, et al. Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency. Immunol Res 2009; 44:4-17.
-
(2009)
Immunol Res
, vol.44
, pp. 4-17
-
-
Mazzolari, E.1
De Martiis, D.2
Forino, C.3
-
10
-
-
65449161797
-
Long-term outcome after haematopoietic stem cell transplantation of a single-centre cohort of 90 patients with severe combined immunodeficiency: Long-term outcome of HSCT in SCID
-
Neven B, Leroy S, Decaluwe H, et al. Long-term outcome after haematopoietic stem cell transplantation of a single-centre cohort of 90 patients with severe combined immunodeficiency: long-term outcome of HSCT in SCID. Blood 2009; 113:4114-4124.
-
(2009)
Blood
, vol.113
, pp. 4114-4124
-
-
Neven, B.1
Leroy, S.2
Decaluwe, H.3
-
11
-
-
59449098985
-
Long-term safety and efficacy of gene therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency
-
Aiuti A, Cattaneo F, Galimberti F, et al. Long-term safety and efficacy of gene therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency. New Engl J Med 2009; 360:447-458.
-
(2009)
New Engl J Med
, vol.360
, pp. 447-458
-
-
Aiuti, A.1
Cattaneo, F.2
Galimberti, F.3
-
12
-
-
40349091377
-
Adenosine A2A receptor antagonists: Blockade of adenosinergic effects and T regulatory cells
-
Sitkovsky M, Lukashev D, Deaglio S, et al. Adenosine A2A receptor antagonists: blockade of adenosinergic effects and T regulatory cells. Br J Pharmacol 2008; 153 (Suppl 1):S457-S464.
-
(2008)
Br J Pharmacol
, vol.153
, Issue.SUPPL. 1
-
-
Sitkovsky, M.1
Lukashev, D.2
Deaglio, S.3
-
14
-
-
0029879147
-
Brief report: Hepatic dysfunction as a complication of adenosine deaminase deficiency
-
Bollinger ME, Arredondo-Vega FX, Santisteban I, et al. Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. N Engl J Med 1996; 334:1367-1371.
-
(1996)
N Engl J Med
, vol.334
, pp. 1367-1371
-
-
Bollinger, M.E.1
Arredondo-Vega, F.X.2
Santisteban, I.3
-
15
-
-
70350439974
-
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency
-
in press
-
Sauer AV, Mrak E, Jofra Hernandez R, et al. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency. Blood 2009 (in press).
-
(2009)
Blood
-
-
Sauer, A.V.1
Mrak, E.2
Jofra Hernandez, R.3
-
16
-
-
0034968336
-
Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency
-
Rogers MH, Lwin R, Fairbanks L, et al. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr 2001; 139:44-50.
-
(2001)
J Pediatr
, vol.139
, pp. 44-50
-
-
Rogers, M.H.1
Lwin, R.2
Fairbanks, L.3
-
17
-
-
34147174979
-
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
-
Honig M, Albert MH, Schulz A, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood 2007; 109:3595-3602.
-
(2007)
Blood
, vol.109
, pp. 3595-3602
-
-
Honig, M.1
Albert, M.H.2
Schulz, A.3
-
18
-
-
55749109027
-
Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies
-
Titman P, Pink E, Skucek E, et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood 2008; 112:3907-3913.
-
(2008)
Blood
, vol.112
, pp. 3907-3913
-
-
Titman, P.1
Pink, E.2
Skucek, E.3
-
19
-
-
67649196929
-
Enhanced airway inflammation and remodeling in adenosine deaminase-deficient mice lacking the A2B adenosine receptor
-
Zhou Y, Mohsenin A, Morschl E, et al. Enhanced airway inflammation and remodeling in adenosine deaminase-deficient mice lacking the A2B adenosine receptor. J Immunol 2009; 182:8037-8046.
-
(2009)
J Immunol
, vol.182
, pp. 8037-8046
-
-
Zhou, Y.1
Mohsenin, A.2
Morschl, E.3
-
20
-
-
0028807727
-
T lymphocyte-directed gene therapy for ADA-SCID: Initial trial results after 4 years
-
Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years. Science 1995; 270:475-480.
-
(1995)
Science
, vol.270
, pp. 475-480
-
-
Blaese, R.M.1
Culver, K.W.2
Miller, A.D.3
-
21
-
-
0028789792
-
Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients
-
Bordignon C, Notarangelo LD, Nobili N, et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients. Science 1995; 270:470-475.
-
(1995)
Science
, vol.270
, pp. 470-475
-
-
Bordignon, C.1
Notarangelo, L.D.2
Nobili, N.3
-
22
-
-
0031975088
-
Successful peripheral T-lymphocytedirected gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency
-
Onodera M, Ariga T, Kawamura N, et al. Successful peripheral T-lymphocytedirected gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. Blood 1998; 91:30-36.
-
(1998)
Blood
, vol.91
, pp. 30-36
-
-
Onodera, M.1
Ariga, T.2
Kawamura, N.3
-
23
-
-
0031593688
-
T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34p cells in ADA-deficient SCID neonates
-
Kohn DB, Hershfield MS, Carbonaro D, et al. T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34p cells in ADA-deficient SCID neonates. Nat Med 1998; 4:775-780.
-
(1998)
Nat Med
, vol.4
, pp. 775-780
-
-
Kohn, D.B.1
Hershfield, M.S.2
Carbonaro, D.3
-
24
-
-
10344243971
-
IL-3 or IL-7 increases ex vivo gene transfer efficiency in ADA-SCID BM CD34p cells while maintaining in vivo lymphoid potential
-
Ficara F, Superchi DB, Hernandez RJ, et al. IL-3 or IL-7 increases ex vivo gene transfer efficiency in ADA-SCID BM CD34p cells while maintaining in vivo lymphoid potential. Mol Ther 2004; 10:1096-1108.
-
(2004)
Mol Ther
, vol.10
, pp. 1096-1108
-
-
Ficara, F.1
Superchi, D.B.2
Hernandez, R.J.3
-
25
-
-
38849134812
-
Gene therapy for childhood immunological diseases
-
Kohn DB. Gene therapy for childhood immunological diseases. Bone marrow transplant 2008; 41:199-205.
-
(2008)
Bone Marrow Transplant
, vol.41
, pp. 199-205
-
-
Kohn, D.B.1
-
26
-
-
69849098671
-
Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID
-
Aiuti A, Brigida I, Ferrua F, et al. Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID. Immunol Res 2009; 44:150-159.
-
(2009)
Immunol Res
, vol.44
, pp. 150-159
-
-
Aiuti, A.1
Brigida, I.2
Ferrua, F.3
-
27
-
-
33645451483
-
Mutagenesis and oncogenesis by chromosomal insertion of gene transfer vectors
-
Baum C, Kustikova O, Modlich U, et al. Mutagenesis and oncogenesis by chromosomal insertion of gene transfer vectors. Hum Gene Ther 2006; 17:253-263.
-
(2006)
Hum Gene Ther
, vol.17
, pp. 253-263
-
-
Baum, C.1
Kustikova, O.2
Modlich, U.3
-
28
-
-
33645734405
-
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1
-
Ott MG, Schmidt M, Schwarzwaelder K, et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 2006; 12:401-409.
-
(2006)
Nat Med
, vol.12
, pp. 401-409
-
-
Ott, M.G.1
Schmidt, M.2
Schwarzwaelder, K.3
-
29
-
-
51349090473
-
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
-
Hacein-Bey-Abina S, Garrigue A, Wang GP, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 2008; 118:3132-3142.
-
(2008)
J Clin Invest
, vol.118
, pp. 3132-3142
-
-
Hacein-Bey-Abina, S.1
Garrigue, A.2
Wang, G.P.3
-
30
-
-
51349158298
-
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients
-
Howe SJ, Mansour MR, Schwarzwaelder K, et al. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest 2008; 118:3143-3150.
-
(2008)
J Clin Invest
, vol.118
, pp. 3143-3150
-
-
Howe, S.J.1
Mansour, M.R.2
Schwarzwaelder, K.3
-
31
-
-
34547686397
-
Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy
-
Aiuti A, Cassani B, Andolfi G, et al. Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy. J Clin Invest 2007; 117:2233-2240.
-
(2007)
J Clin Invest
, vol.117
, pp. 2233-2240
-
-
Aiuti, A.1
Cassani, B.2
Andolfi, G.3
-
32
-
-
67149105856
-
Murine leukemias with retroviral insertions at Lmo2 are predictive of the leukemias induced in SCID-X1 patients following retroviral gene therapy
-
Dave UP, Akagi K, Tripathi R, et al. Murine leukemias with retroviral insertions at Lmo2 are predictive of the leukemias induced in SCID-X1 patients following retroviral gene therapy. PLoS Genet 2009; 5:e1000491.
-
(2009)
PLoS Genet
, vol.5
-
-
Dave, U.P.1
Akagi, K.2
Tripathi, R.3
-
33
-
-
33746801652
-
Unique risk factors for insertional mutagenesis in a mouse model of XSCID gene therapy
-
Shou Y, Ma Z, Lu T, Sorrentino BP. Unique risk factors for insertional mutagenesis in a mouse model of XSCID gene therapy. Proc Natl Acad Sci U S A 2006; 103:11730-11735.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 11730-11735
-
-
Shou, Y.1
Ma, Z.2
Lu, T.3
Sorrentino, B.P.4
-
34
-
-
70350770506
-
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy
-
in press
-
Cassani B, Montini E, Maruggi G, et al. Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy. Blood 2009 (in press).
-
(2009)
Blood
-
-
Cassani, B.1
Montini, E.2
Maruggi, G.3
-
35
-
-
31944440000
-
Retroviral vector integration deregulates gene expression but has no consequence on the biology and function of transplanted T cells
-
Recchia A, Bonini C, Magnani Z, et al. Retroviral vector integration deregulates gene expression but has no consequence on the biology and function of transplanted T cells. Proc Natl Acad Sci U S A 2006; 103:1457-1462.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 1457-1462
-
-
Recchia, A.1
Bonini, C.2
Magnani, Z.3
-
36
-
-
65249101260
-
The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy
-
Montini E, Cesana D, Schmidt M, et al. The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy. J Clin Invest 2009; 119:964-975.
-
(2009)
J Clin Invest
, vol.119
, pp. 964-975
-
-
Montini, E.1
Cesana, D.2
Schmidt, M.3
-
37
-
-
33751183069
-
Ex vivo gene therapy with lentiviral vectors rescues adenosine deaminase (ADA)-deficient mice and corrects their immune and metabolic defects
-
Mortellaro A, Hernandez RJ, Guerrini MM, et al. Ex vivo gene therapy with lentiviral vectors rescues adenosine deaminase (ADA)-deficient mice and corrects their immune and metabolic defects. Blood 2006; 108:2979-2988.
-
(2006)
Blood
, vol.108
, pp. 2979-2988
-
-
Mortellaro, A.1
Hernandez, R.J.2
Guerrini, M.M.3
-
38
-
-
47049124096
-
Neonatal bone marrow transplantation of ADA-deficient SCID mice results in immunological reconstitution despite low levels of engraftment and an absence of selective donor T lymphoid expansion
-
Carbonaro DA, Jin X, Cotoi D, et al. Neonatal bone marrow transplantation of ADA-deficient SCID mice results in immunological reconstitution despite low levels of engraftment and an absence of selective donor T lymphoid expansion. Blood 2008; 111:5745-5754.
-
(2008)
Blood
, vol.111
, pp. 5745-5754
-
-
Carbonaro, D.A.1
Jin, X.2
Cotoi, D.3
-
39
-
-
33646894965
-
In vivo transduction by intravenous injection of a lentiviral vector expressing human ADA into neonatal ADA gene knockout mice: A novel form of enzyme replacement therapy for ADA defi-ciency
-
Carbonaro DA, Jin X, Petersen D, et al. In vivo transduction by intravenous injection of a lentiviral vector expressing human ADA into neonatal ADA gene knockout mice: a novel form of enzyme replacement therapy for ADA defi-ciency. Mol Ther 2006; 13:1110-1120.
-
(2006)
Mol Ther
, vol.13
, pp. 1110-1120
-
-
Carbonaro, D.A.1
Jin, X.2
Petersen, D.3
-
40
-
-
68249097468
-
Gene therapy continues to mature and to face challenges
-
Williams DA. Gene therapy continues to mature and to face challenges. Mol Ther 2009; 17:1305-1306.
-
(2009)
Mol Ther
, vol.17
, pp. 1305-1306
-
-
Williams, D.A.1
|